2 Matching Annotations
  1. Oct 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans
    2
    1. delaneyoshea 27 Oct 2022
      Patient 1

      Case#: female, age 4

      DiseaseAssertion: GAMT deficiency

      FamilyInfo: Patient 2 is the sister of patient 1, both parents are heterozygous for the mutation.

      CasePresentingHPOs: N/A CaseHPOFreeText: N/A CaseNotHPOs: N/A CaseNotHPOFreeText: N/A

      Biochemical analyte testing: urine excretion- 16, 13 micromol/g

      Zygosity: homozygous

      Variant: 9297 G to A nucleotide change ClinVarID: N/A CAID: N/A gnomAD: N/A PMID:11555793

      Gene:GAMT zygosity: homozygote
    2. delaneyoshea 27 Oct 2022
      Patient 2

      Case#: female, age 6

      DiseaseAssertion: GAMT deficiency

      FamilyInfo: Patient 2 is the sister of patient 1, both parents are heterozygous for the mutation.

      CasePresentingHPOs: N/A CaseHPOFreeText: N/A CaseNotHPOs: N/A CaseNotHPOFreeText: N/A

      Biochemical analyte testing: urine excretion- 17,9 micromol/g

      Zygosity: homozygous

      Variant: 9297 G to A nucleotide change ClinVarID: N/A CAID: N/A gnomAD: N/A PMID:11555793

      Gene:GAMT zygosity: homozygote
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    ncbi.nlm.nih.gov/pmc/articles/PMC1274356/